Archives De Pediatrie最新文献

{"title":"Intervention mapping for the development of a new model of care for people with cystic fibrosis in the era of highly effective modulator therapy.","authors":"Julie Haesebaert, Quitterie Reynaud, Isabelle Durieu, Stephanie Poupon-Bourdy, Thierry Nouvel, Philippe Reix","doi":"10.1016/j.arcped.2025.08.001","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.08.001","url":null,"abstract":"<p><p>Highly effective modulator therapy (HEMT) is available to a broader range of people with cystic fibrosis (pwCF). It has significantly improved short-term clinical outcomes and has the potential to alter the natural history of this fatal genetic disease. If long-term follow-up observational data is required to ensure clinical benefits, it is obvious that it will also change the needs of pwCF and the roles and missions of healthcare professionals (HCPs) in CF centers and beyond. We will conduct a nationwide research program called 'HORIZON' to support the changes in the organization of CF care in the coming years. It has received the financial support of the French Ministry of Health in 2022. Our primary objective is to design a new model of care that respond to the new needs and missions of pwCF and HCPs in this era of rapid and profound changes due to HEMT. This research program is based on the intervention mapping method, in which we will conduct the first four steps to design and plan the implementation of a new model of care. The program will involve all stakeholders of the CF care network, including HCPs from CF care centers and outside, pwCF, their families, patient organizations, and experts in CF. It will combine quantitative and qualitative research approaches and rely on an 'action research' method. Anticipating and supporting the reorganization of CF care in France requires a robust research program to find the best model that meets the expectations of all key stakeholders.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spinal dysraphism in newborns: Screening factors for prioritizing rapid spinal ultrasonography from a retrospective cohort study.","authors":"Lorena Wagnez, Mélodie-Anne Karnoub, Thameur Rakza, Constance Marié, Pierre Tourneux","doi":"10.1016/j.arcped.2025.07.003","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.07.003","url":null,"abstract":"<p><strong>Background: </strong>Spinal dysraphism is a common condition and may be either open or occult. Occult dysraphism is generally diagnosed in the postnatal period through clinical examination and spinal ultrasonography (USG). Clinical signs of spinal dysraphism are common and not specific. Several spinal USG are required to confirm or exclude this condition. It is crucial to identify the infants at highest risk of dysraphism for rapid USG, and avoid unnecessary screening. The aim of the study was to evaluate the relationship between clinical examination signs and spinal USG examination results to determine which clinical signs are associated with a high risk of dysraphism, to facilitate the prioritization of infants for spinal USG examinations.</p><p><strong>Patients and methods: </strong>We performed a retrospective cohort study in a regional neurosurgical and neonatal reference center, from January 2017 to December 2021. All infants undergoing screening for spinal dysraphism by USG during this period based on clinical indicators in the lumbosacral region were included. Infants who underwent spinal USG as part of a systematic assessment were excluded. The primary outcome was the incidence of abnormal USG results. The clinical characteristics of patients with suspected dysraphism were collected and compared between groups.</p><p><strong>Results: </strong>We included 144 patients, 22.2 % USG results were abnormal suggesting occult dysraphism. USG was performed due to the presence of a simple sacral dimple in 41.7 % infants which was strongly associated with a normal USG result (RR = 0.32 _{95 %}CI [0.14 - 0.70]; p = 0.0029), whereas abnormal USG results were more frequent in patients with gluteal cleft abnormalities (RR = 3.09 _{95 %}CI [1.5 - 5.2]; p = 0.0029).</p><p><strong>Conclusion: </strong>Clinical signs such as sacral dimple or gluteal cleft abnormality could help prioritizing USG. The use of a diagnostic tree based on a \"step-by-step\" model would make it possible to avoid some unnecessary USG and would allow comparative international studies.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimizing vitamin D supplementation: the role of physician awareness and patient adherence.","authors":"Berkay Yalçınkaya, Ahmet Furkan Çolak, Murat Kara","doi":"10.1016/j.arcped.2025.08.003","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.08.003","url":null,"abstract":"","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145260032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vaccinating children against SARS-CoV-2 - parents' attitude.","authors":"Katarzyna Rakoczy, Justyna Kaczor, Adam Sołtyk, Iga Mastalska, Małgorzata Saczko, Julita Kulbacka","doi":"10.1016/j.arcped.2025.05.012","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.05.012","url":null,"abstract":"<p><strong>Background: </strong>Even though society wants to eradicate the pandemic of SARS-CoV-2, people are distrustful of the vaccination program, especially regarding children. Moreover, parents are becoming increasingly skeptical about vaccinating their children.</p><p><strong>Objectives: </strong>This study aims to identify the reasons for this distrust and thus discover novel ways to raise societal awareness of the importance of vaccination.</p><p><strong>Methods and setting: </strong>The study was based on the results of an online questionnaire survey prepared by the authors and conducted in Poland. The survey was addressed to parents of children aged 5-11.</p><p><strong>Results: </strong>The study recruited 1263 parents of children aged 5-11 who completed the questionnaire correctly. Among those, 34.28 % confirmed that they did or planned to vaccinate their children. More than half of the responders were parents who declared that they had not vaccinated their children and would not do that in the future (52.02 %), whereas 13.7 % of parents had not yet decided whether they would vaccinate their children. Parents who declared their children were not vaccinated against SARS-CoV-2 exhibited a predisposition to highly negative attitudes towards vaccination in general, which negated their safety and efficacy. The majority (73.93 %) of those non-vaccinating parents believed that vaccines endanger the health and life of children. Some also feared severe adverse reactions (33.84 %) and expressed that it would be better for children to be immunized by getting over the disease (28.05 %).</p><p><strong>Conclusions: </strong>Negative opinions about vaccinating children against SARS-CoV-2 derive from misunderstanding the immune system mechanisms and the vaccination purpose. For this reason, information regarding the safety and value of the COVID-19 vaccine and vaccines in general should be more widely publicized.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145260076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surgical management of 117 patients with halo-gravity traction: corrections, complications, and neurological risks: Surgical management of 117 patients with halo-gravity traction.","authors":"Lou Richard, Elie Saghbini, Gauthier Eloy, Reda Kabbaj, Clélia Thouement, Raphael Vialle, Mathilde Gaume","doi":"10.1016/j.arcped.2025.07.006","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.07.006","url":null,"abstract":"<p><strong>Background: </strong>Severe scoliosis, defined by a major curve exceeding 80°, requires surgical correction and is particularly prone to post-operative mechanical and neurological complications.</p><p><strong>Objective: </strong>This study aimed to evaluate the corrections and complications obtained by halo-gravity traction (HGT) followed by single posterior approach surgery for severe scoliosis. The secondary objective was to identify any risk factors associated with neurological complications.</p><p><strong>Methods: </strong>A single-center retrospective review of all patients operated on with severe scoliosis or kyphosis of any cause, by a single posterior approach after a period of HGT. Demographic data including age at surgery, sex, and body mass index were collected. Pre-traction, post-traction, postoperative major curve, and kyphosis angles were reported. Perioperative complications both during the traction period and postoperatively were recorded.</p><p><strong>Results: </strong>117 patients with a mean age at surgery of 14.0 ± 2.0 years were included. The mean preoperative major curve was 90.7°±22.1° (from 80.1 to 147.2°) and the mean kyphosis was 60.8°± 31.70 (from 3.3 to 150.2°). The mean major curve after traction was 66.1°±15.2° (from 30.2 to 101.5°) and 33.7°±17.0° (from 0.2° to 104.4°) postoperatively, with a total correction of 69 %. During the HGT period, 8 (6.8 %) complications occurred: 3 superficial infections, 4 pin displacement, and 1 case of encopresis. Postoperatively, eight deficits were observed, with two being permanent. No risk factors for postoperative neurological complications were identified.</p><p><strong>Conclusions: </strong>A 6-week period of HGT is associated with a low complication rate, and is effective to prepare severe scoliosis surgery, even for curvatures exceeding 120°.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145245469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute disseminated encephalomyelitis mimicking brain tumor: about 2 pediatric cases: ADEM mimicking brain tumor.","authors":"Francesca Albertini, Mériam Koob, Stephane Darteyre, Sébastien Lebon","doi":"10.1016/j.arcped.2025.05.009","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.05.009","url":null,"abstract":"<p><strong>Introduction: </strong>Acute disseminated encephalomyelitis (ADEM) ADEM is a well-known and treatable inflammatory pediatric condition with a good prognosis outcome. Atypical forms exist that can lead to misdiagnosis and sometimes inappropriate management.</p><p><strong>Observation and discussion: </strong>We report two cases with tumor-like lesions, highlighting their clinical and magnetic resonance imaging (MRI) features. Diagnostic keys for prompt recognition are discussed.</p><p><strong>Conclusion: </strong>Tumefactive demyelinating lesions can mimic brain tumors or abscesses, leading to potential misdiagnosis and inappropriate or delayed treatment. These two clinical cases emphasize the importance of considering this entity in the differential diagnosis of brain tumors in pediatric patients.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145245916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of upper airway obstruction in syndromic craniosynostosis: A lifespan approach from childhood to adulthood.","authors":"Eric Moreddu, Audrey Gallucci, Grégoire Pech-Gourg, Julie Mazenq, Richard Nicollas","doi":"10.1016/j.arcped.2025.06.005","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.06.005","url":null,"abstract":"<p><strong>Introduction: </strong>Syndromic faciocraniosynostoses are malformations of the skull and face caused by premature closure of one or more cranial sutures, characterized by hypoplasia of the maxilla, leading to upper airway obstruction.</p><p><strong>Objective: </strong>The aim is to provide a comprehensive review on the management of upper ventilatory disorders in the context of craniosynostosis.</p><p><strong>Methods and results: </strong>Initial management should look for upper airway obstruction through questioning, clinical examination with flexible laryngoscopy, and, if in doubt, sleep recording to look for obstructive sleep-disordered breathing. Treatment consists of re-establishing airway patency through non-surgical treatments such as non-invasive ventilation and correcting the obstruction through various surgical procedures: fronto-facial advancement, adenoidectomy, turbinoplasty, septoplasty, etc. A tracheotomy may be necessary during early childhood, pending permeabilization of the upper airways. The age at which surgery is performed varies, depending on the individual patient, and it is not uncommon for patients to require surgery in adulthood, either as part of the initial management or for additional surgeries to improve obstruction.</p><p><strong>Conclusion: </strong>The multidisciplinary approach is the key for managing craniosynostoses, from diagnosis to treatment, from childhood to adulthood.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Validation of French versions of scales for evaluating the fear of hypoglycemia in children with type 1 diabetes and their parents.","authors":"Lénaig Coustans, Solène Collay, Chantal Metz, Loïc de Parscau, Elise Bismuth, Luc Ollivier, Raphael Teissier","doi":"10.1016/j.arcped.2025.03.008","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.03.008","url":null,"abstract":"<p><p>Hypoglycemia can be a major obstacle to obtaining satisfactory metabolic control for patients with type 1 diabetes (T1D) and their parents. It is essential that patients and/or parents with fear of hypoglycemia be identified (FOH), to offer them therapeutic or educational support to reduce this apprehension. To assess fear of hypoglycemia, the most widely used tool is the Hypoglycemia Fear Survey (HFS), and its three pediatric versions (HFS-Child (HFS-C), HFS-Parents (HFS-P), and HFS-Parents Young Children (HFS-PYC)). There are no similar validated questionnaires in French to assess fear of hypoglycemia. Our main objective was to translate and validate the French translation of the three pediatric versions of the HFS. Between January 2017 and December 2020, we carried out a prospective, non-interventional, multicenter, cross-sectional psychometric study in children with T1D and their parents, the aim of which was to translate and validate the French version of these surveys. The pediatric HFS were translated and adapted to French, using the forward-backward translation method. The psychometric propriety of the resulting questionnaires was then evaluated: internal consistency (Cronbach's alpha), concurrent validity (correlating a validated survey assessing anxiety about diabetes), and stability (by means of scale scores at inclusion and at 3 months). The internal consistency of the French version of HFS-C, HFS-P and HFS-PYC was very good, with respective Cronbach coefficients of 0.86, 0.85 and 0.90. There were no differences between the Hypoglycemia Fear Survey at inclusion and at 3 months. Each French version was correlated with the anxiety questionnaire. With this study, we developed a French translation of the three pediatric versions of the Hypoglycemia Fear Survey, which can be used to assess the fear of hypoglycemia in children with T1D and their parents.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"« Certain » and « probable » shaken baby syndrome according to the HAS diagnostic criteria: a different neurological prognosis?","authors":"Auréliane Dantin, Sofia Guernouche, Sylvie Lorthois-Ninou, Vincent Des Portes, Etienne Javouhey, Carmine Mottolese, Laurence Lion-François, Federico Di Rocco","doi":"10.1016/j.arcped.2025.07.005","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.07.005","url":null,"abstract":"<p><strong>Objectives: </strong>The diagnosis of shaken baby syndrome (SBS) is difficult; the French High Authority for Health called \"Haute Autorité de Santé\" (HAS) introduced clinical and radiological criteria in 2017 to classify the diagnosis as \"certain\" or \"probable.\" The aim of this study is to compare the clinical evolution of children with \"certain\" and \"probable\" diagnosis criteria of SBS.</p><p><strong>Methods: </strong>Records of patients with a diagnosis of SBS according to HAS criteria, aged 1 to 16 months, admitted to a University Hospital between January 1st, 2008, and March 31st, 2018, were retrospectively analysed. Medical follow-up data were collected until December 31st, 2019. The primary endpoint was the Glasgow Outcome Scale (GOS) score at the end of hospitalization: the evolution was \"favourable\" if the GOS was equal to 5, and \"unfavourable\" if the GOS was lower than 5.</p><p><strong>Results: </strong>107 children were included. The mortality rate was 10 %. There was no significant difference in the GOS score at the end of hospitalization between children with \"certain\" diagnosis and those with \"probable\" diagnosis (p = 0.75). There was no significant difference at last follow-up between these two groups. Among the children with an \"unfavourable\" outcome, 68 % had psychomotor developmental delay, 57 % had motor sequelae, 38 % had visual impairments and 36 % had epilepsy. Among those with a \"favourable\" outcome, 31 % had language disorders and 13 % had learning disorders. The GOS score at the end of follow-up was identical to the GOS at the end of hospitalization for 76 % of patients. It had improved for 14 % of the patients and had deteriorated for 10 % of the patients.</p><p><strong>Conclusions: </strong>The \"certain\" or \"probable\" diagnosis of SBS according to HAS criteria does not modify the risk of sequelae during follow-up. Mortality and morbidity remain significant. Multidisciplinary management and specialized medical long-term follow-up are essential in both conditions.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145245904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spectrum of DMD gene mutations in 507 patients: a retrospective genotype-phenotype study using next-generation sequencing.","authors":"Siyi Gan, Li Xu, Hongmei Liao, Liwen Wu","doi":"10.1016/j.arcped.2025.07.002","DOIUrl":"https://doi.org/10.1016/j.arcped.2025.07.002","url":null,"abstract":"<p><strong>Background: </strong>Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, but comprehensive analyses of mutational patterns and clinical correlations remain limited.</p><p><strong>Objective: </strong>To characterize the DMD mutational spectrum and its clinical implications in a large Asian cohort.</p><p><strong>Methods & settings: </strong>A retrospective genetic analysis of 507 unrelated male DMD/Becker muscular dystrophy patients was conducted at Hunan Children's Hospital (2018-2021). Multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS) were employed for comprehensive variant detection. Variants were classified per ACMG/AMP guidelines.</p><p><strong>Results: </strong>Exon deletions predominated (64.9%), followed by small mutations (26.0%) and duplications (9.1%). Nonsense mutations were the most frequent small variant (16.0%). Domain analysis revealed mutations clustered in the Central Rod Domain (CRD; exons 45-55). The Carboxy-Terminal Domain (CTD) was associated with the most severe phenotype (earliest loss of ambulation, P < 0.05 vs. Actin-Binding Domain [ABD] or CRD). Exon 53 skipping was applicable in 39.39% of eligible patients. De novo mutations accounted for 7.9% (40/507) of cases. Epilepsy comorbidity occurred in 1.34% (6/448) of DMD patients.</p><p><strong>Conclusion: </strong>This study delineates the DMD mutational landscape in a Chinese cohort, highlighting domain-specific phenotypic severity (CTD > ABD > CRD) and identifying exon 53 as the primary therapeutic target for exon skipping. These findings enhance prognostic precision and guide targeted therapeutic strategies.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145245283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}